Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Simple models of genomic variation in human SNP density.
PMID 17553150 · PMC1919371 · BMC genomics · 2007 · 6 claims · 4 setups
Hierarchical Poisson model B, which allows both the mutation-rate proxy (Beta-distributed Λ) and the ARG-size proxy (Gamma-distributed T) to vary, fits the observed SNP density distribution significantly better than models with only one or neither varying.
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A note on generalized Genome Scan Meta-Analysis statistics.
PMID 15717930 · PMC551600 · BMC bioinformatics · 2005 · 7 claims · 3 setups
An Edgeworth series approximation to the null distribution of the weighted GSMA statistic provides a more accurate representation than the normal approximation, especially in the tails
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Modeling ChIP sequencing in silico with applications.
PMID 18725927 · PMC2507756 · PLoS computational biology · 2008 · 8 claims · 4 setups
Observed ChIP-seq tag counts follow an initial power-law distribution followed by a long right tail.
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A statistical approach designed for finding mathematically defined repeats in shotgun data and determining the length distribution of clone-inserts.
PMID 15626332 · PMC5172250 · Genomics, proteomics & bioinformatics · 2003 · 8 claims · 6 setups
Repeats of different copy number have distinct probabilities of appearance in shotgun data, which can be modeled statistically to define recognition thresholds (MDRs) at different shotgun coverages.
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Direct inference of SNP heterozygosity rates and resolution of LOH detection.
PMID 18052545 · PMC2098867 · PLoS computational biology · 2007 · 6 claims · 7 setups
A large proportion of SNPs in dbSNP have high-variance HET rate estimates, limiting their reliability for LOH study design.
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Accuracy of predicting the genetic risk of disease using a genome-wide approach.
PMID 18852893 · PMC2561058 · PloS one · 2008 · 8 claims · 4 setups
Deterministic equations can predict the accuracy (r_gĝ) of genome-wide genetic risk/value prediction for continuous, dichotomous, and case-control study designs.
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BFAST: an alignment tool for large scale genome resequencing.
PMID 19907642 · PMC2770639 · PloS one · 2009 · 7 claims · 4 setups
BFAST is a new algorithm and freely available software tool for aligning large-scale short-read sequencing data to large reference genomes with user-customizable speed and accuracy
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Has reproduction · 65
FusionQ: a novel approach for gene fusion detection and quantification from paired-end RNA-Seq.
PMID 23768108 · PMC3691734 · BMC bioinformatics · 2013 · 8 claims · 8 setups
FusionQ is a novel tool that detects gene fusions, constructs chimerical transcript structures, and estimates their abundances from paired-end RNA-Seq data.
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The distribution of SNPs in human gene regulatory regions.
PMID 16209714 · PMC1260019 · BMC genomics · 2005 · 8 claims · 6 setups
SNPs occur with higher density closer to the transcriptional start site within gene promoter regions than in further upstream regions
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Insights into the coupling of duplication events and macroevolution from an age profile of animal transmembrane gene families.
PMID 16895434 · PMC1534073 · PLoS computational biology · 2006 · 8 claims · 7 setups
The density of transmembrane gene duplicates positively correlates with the estimated maximum number of cell types of common ancestors
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Has reproduction · 61
TEMP: a computational method for analyzing transposable element polymorphism in populations.
PMID 24753423 · PMC4066757 · Nucleic acids research · 2014 · 8 claims · 8 setups
TEMP combines pair-end (discordant) read and split (soft-clipped) read information to identify both presence and absence of TE insertions in genomic DNA from heterogeneous/pooled samples.
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What can genome-wide association studies tell us about the genetics of common disease?
PMID 18454206 · PMC2323402 · PLoS genetics · 2008 · 8 claims · 4 setups
Apparent patterns of common, low-effect disease-associated alleles largely reflect statistical power of studies rather than the true underlying distribution of disease variants
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Has reproduction · 68
Bayesian transcriptome assembly.
PMID 25367074 · PMC4397945 · Genome biology · 2014 · 8 claims · 8 setups
Bayesembler, a probabilistic transcriptome assembler built on a Bayesian model of the RNA sequencing process with Gibbs sampling over expressed candidates, abundances and read assignments, is introduced.
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Has reproduction · 85
Optimisation of the core subset for the APY approximation of genomic relationships.
PMID 36418945 · PMC9682752 · Genetics, selection, evolution : GSE · 2022 · 7 claims · 3 setups
APY approximates the full genomic relationship matrix by splitting genotyped animals into a core subset (fully dependent, direct inverse) and a non-core subset (conditionally independent given core), reducing inversion cost.
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PedGenie: an analysis approach for genetic association testing in extended pedigrees and genealogies of arbitrary size.
PMID 16620382 · PMC1459209 · BMC bioinformatics · 2006 · 7 claims · 3 setups
PedGenie is a valid, flexible statistical tool for genetic association analysis in pedigrees of arbitrary size and structure using Monte Carlo significance testing
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Calculating expected DNA remnants from ancient founding events in human population genetics.
PMID 18928554 · PMC2588638 · BMC genetics · 2008 · 8 claims · 3 setups
Genetic parameters (native/migrant population size, mutation rate, generations since admixture) strongly determine the final frequency of migrant alleles detectable today.
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Benchmarking tools for the alignment of functional noncoding DNA.
PMID 14736341 · PMC344529 · BMC bioinformatics · 2004 · 8 claims · 4 setups
Global alignment tools (Avid, ClustalW, Lagan, Needle, DiAlign-G) typically have higher sensitivity over entire noncoding sequences and within constrained blocks than local tools
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Has reproduction · 87
Forseti: a mechanistic and predictive model of the splicing status of scRNA-seq reads.
PMID 38940130 · PMC11256924 · Bioinformatics (Oxford, England) · 2024 · 7 claims · 5 setups
Forseti is the first probabilistic model for resolving the splicing status of exonic scRNA-seq reads by scoring putative fragments linking read alignments to proximate priming sites
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Has reproduction · 86
RNASEQR--a streamlined and accurate RNA-seq sequence analysis program.
PMID 22199257 · PMC3315322 · Nucleic acids research · 2012 · 8 claims · 7 setups
RNASEQR is a new RNA-seq mapper/aligner that combines a BWT-based (Bowtie) transcriptomic/genomic alignment with hash-based BLAT local alignment in three sequential steps: transcriptome mapping, novel exon detection, and anchor-and-align novel splice junction identification.
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Genome-wide scans for loci under selection in humans.
PMID 16004726 · PMC3525256 · Human genomics · 2005 · 8 claims · 4 setups
Natural selection and population demographic history both distort patterns of genetic variation relative to the standard neutral model, so single-locus tests cannot unambiguously distinguish selection from demography.